Variant report

Variant	rs6473892
Chromosome Location	chr8:54735554-54735555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54733544..54735901-chr8:54752993..54755423,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16919513	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919526	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919566	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41360051	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56321533	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57838567	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58446058	1.00[EUR][1000 genomes]
rs59122208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59751066	1.00[EUR][1000 genomes]
rs61453862	1.00[EUR][1000 genomes]
rs73680307	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680313	1.00[EUR][1000 genomes]
rs73680318	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680324	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682541	1.00[EUR][1000 genomes]
rs73682550	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73682559	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
2	chr8:54687600-54753600	Weak transcription	A549	lung
3	chr8:54700000-54740400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:54707800-54740400	Weak transcription	K562	blood
5	chr8:54709000-54740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:54713200-54740200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:54714200-54740600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:54720000-54745800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:54720200-54740400	Weak transcription	Fetal Heart	heart
13	chr8:54720600-54752400	Weak transcription	Small Intestine	intestine
14	chr8:54721800-54740400	Weak transcription	Fetal Brain Male	brain
15	chr8:54722800-54740400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:54724800-54754800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:54725800-54739400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:54726800-54739200	Weak transcription	Colonic Mucosa	Colon
19	chr8:54726800-54740200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:54727000-54738000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:54727000-54738800	Weak transcription	Fetal Brain Female	brain
22	chr8:54727000-54739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:54727000-54739200	Weak transcription	Pancreas	Pancrea
24	chr8:54727000-54739400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:54727000-54740200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:54727000-54740200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:54727000-54740200	Weak transcription	Right Ventricle	heart
28	chr8:54727000-54740400	Weak transcription	Aorta	Aorta
29	chr8:54727000-54740600	Weak transcription	Esophagus	oesophagus
30	chr8:54727000-54741400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:54727000-54745600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:54727000-54745800	Weak transcription	Gastric	stomach
33	chr8:54727200-54739200	Weak transcription	Brain Germinal Matrix	brain
34	chr8:54727200-54740000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:54727200-54740600	Weak transcription	Fetal Lung	lung
36	chr8:54727200-54740800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:54727400-54740600	Weak transcription	NHDF-Ad	bronchial
38	chr8:54728200-54752200	Weak transcription	Stomach Mucosa	stomach
39	chr8:54728400-54740000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:54728600-54740200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:54728600-54740600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:54729600-54740000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:54729600-54740400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:54729800-54739200	Weak transcription	Lung	lung
45	chr8:54729800-54740800	Weak transcription	Fetal Kidney	kidney
46	chr8:54730000-54739200	Weak transcription	Fetal Stomach	stomach
47	chr8:54730200-54737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:54730200-54738000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:54730200-54738600	Weak transcription	Brain Anterior Caudate	brain
50	chr8:54730200-54738800	Weak transcription	Fetal Muscle Trunk	muscle

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